Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease

Mutations identified in a cohort of patients with atrioventricular septal defects as a part of Ellis van Creveld syndrome (EvC syndrome) led us to study the role of two non-homologous genes, EVC and LBN, in heart development and disease pathogenesis. To address the cause of locus heterogeneity resul...

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Veröffentlicht in:Human molecular genetics 2009-05, Vol.18 (10), p.1813-1824
Hauptverfasser: Sund, Kristen Lipscomb, Roelker, Stephanie, Ramachandran, Vijaya, Durbin, Lisa, Benson, D. Woodrow
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Sprache:eng
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